Source
Division of Molecular Cardiovascular Biology, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, USA. stephanie.ware@cchmc.org
Abstract
BACKGROUND:
Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality.
METHODS:
This study aimed to identify the mutation present in four unrelated patients who presented as infants with isolated hypertrophic cardiomyopathy.
RESULTS:
In all four, a novel mitochondrial m.8528T-->C mutation was identified. This results in a change of the initiation codon in ATPase 6 to threonine and a concurrent change from a highly conserved hydrophobic amino acid, tryptophan, at position 55 of ATPase 8 to a highly basic arginine. To our knowledge, this is the first report of a mutation affecting both mitochondrial genome-encoded complex V subunit proteins. Testing of the relatives of one patient indicated that the mutation is heteroplasmic and correlated with disease.
CONCLUSION:
Mitochondrial genome sequencing should be considered in patients with infantile hypertrophic cardiomyopathy.